What is the diagnosis for a newborn boy with hepatosplenomegaly, jaundice, clear rhinorrhea, and a maculopapular rash, born via cesarean delivery due to a category III fetal heart rate (FHR) tracing, with initial Apgar scores of 8 and 9 at 1 and 5 minutes, respectively?

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Differential Diagnosis

  • Single most likely diagnosis
    • Congenital Rubella Syndrome: The presence of hepatosplenomegaly, jaundice, clear rhinorrhea, and a maculopapular rash that desquamates are all consistent with congenital rubella syndrome. The lack of prenatal care and the mother's report of an uncomplicated pregnancy suggest that she may not have been screened for rubella immunity.
  • Other Likely diagnoses
    • Congenital Cytomegalovirus (CMV) Infection: CMV is a common cause of congenital infection and can present with hepatosplenomegaly, jaundice, and a rash. The presence of these symptoms in the newborn, combined with the lack of prenatal care, makes CMV a plausible diagnosis.
    • Congenital Toxoplasmosis: Toxoplasmosis can cause hepatosplenomegaly, jaundice, and a rash in newborns. Although less common than CMV or rubella, toxoplasmosis is still a possible diagnosis, especially given the mother's lack of prenatal care.
    • Congenital Syphilis: Syphilis can cause a range of symptoms in newborns, including hepatosplenomegaly, jaundice, and a rash. The absence of prenatal care increases the likelihood of undiagnosed syphilis in the mother.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Congenital Herpes Simplex Virus (HSV) Infection: HSV can cause severe illness in newborns, including disseminated disease, which can be fatal if not promptly treated. Although the symptoms presented do not strongly suggest HSV, it is essential to consider this diagnosis due to its potential severity.
    • Bacterial Sepsis: Sepsis can present with nonspecific symptoms, including jaundice, rash, and hepatosplenomegaly. Given the patient's category III fetal heart rate tracing and cesarean delivery, there is a possibility of bacterial infection, which would require prompt antibiotic treatment.
  • Rare diagnoses
    • Congenital Varicella Syndrome: Varicella can cause congenital anomalies and symptoms such as hepatosplenomegaly and a rash. However, this diagnosis is relatively rare and would require the mother to have had varicella infection during the first 20 weeks of pregnancy.
    • Congenital Lymphocytic Choriomeningitis (LCMV) Infection: LCMV is a rare cause of congenital infection and can present with hepatosplenomegaly, jaundice, and a rash. However, this diagnosis is unlikely without a history of exposure to rodents or other risk factors.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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